Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | ACTG2 CL E G H | 72 | 145 | ORPHA:2604 | Familial visceral myopathy | HP:0040283 - Occasional | | | 23 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | AP2S1 CL E G H | 1175 | 565 | OMIM:600740 | Hypocalciuric hypercalcemia, familial, type III | | | | 6 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | ARMC5 CL E G H | 79798 | 25781 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 7 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | CASR CL E G H | 846 | 1514 | OMIM:239200 | Hyperparathyroidism, neonatal severe | | | | 272 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | CASR CL E G H | 846 | 1514 | OMIM:145980 | Hypocalciuric hypercalcemia, familial, type I | . | | | 272 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99879 | Familial isolated hyperparathyroidism | | | | 169 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | CDC73 CL E G H | 79577 | 16783 | OMIM:145000 | Hyperparathyroidism 1 | | | | 169 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | CDC73 CL E G H | 79577 | 16783 | OMIM:145001 | Hyperparathyroidism 2 | . | | | 169 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | | | | 169 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | CDC73 CL E G H | 79577 | 16783 | OMIM:608266 | Parathyroid carcinoma | . | | | 169 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | | | | 169 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 2 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 102 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040281 - Very frequent | | | 102 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | CDKN1B CL E G H | 1027 | 1785 | OMIM:610755 | Multiple endocrine neoplasia, type IV | | | | 102 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 1 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | CLDN10 CL E G H | 9071 | 2033 | OMIM:617671 | Helix syndrome | | | | 3 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | | | | 41 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | CYP27B1 CL E G H | 1594 | 2606 | OMIM:264700 | Vitamin D hydroxylation-deficient rickets, type 1A | | | | 41 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | | | | 5 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | FOXI1 CL E G H | 2299 | 3815 | ORPHA:705 | Pendred syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | GCM2 CL E G H | 9247 | 4198 | ORPHA:99879 | Familial isolated hyperparathyroidism | | | | 51 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | GCM2 CL E G H | 9247 | 4198 | OMIM:617343 | Hyperparathyroidism 4 | | | | 51 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | GNA11 CL E G H | 2767 | 4379 | OMIM:145981 | Hypocalciuric hypercalcemia, familial, type II | | | | 16 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 101 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:174800 | McCune-Albright syndrome, somatic, mosaic | . | | | 101 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:705 | Pendred syndrome | HP:0040283 - Occasional | | | 121 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:99879 | Familial isolated hyperparathyroidism | | | | 462 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:97279 | Insulinoma | | | | 462 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 462 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040282 - Frequent | | | 88 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | PLEKHM1 CL E G H | 9842 | 29017 | OMIM:618107 | OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3 | | | | 2 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | RET CL E G H | 5979 | 9967 | OMIM:171400 | Multiple endocrine neoplasia, type IIA | | | | 572 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | HP:0040283 - Occasional | | | 75 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | SLC26A4 CL E G H | 5172 | 8818 | ORPHA:705 | Pendred syndrome | HP:0040283 - Occasional | | | 274 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | VDR CL E G H | 7421 | 12679 | ORPHA:93160 | Hypocalcemic vitamin D-resistant rickets | HP:0040281 - Very frequent | | | 104 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | | | | 104 | | |
HP:0000843 | HP:0000843 | Hyperparathyroidism | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:97279 | Insulinoma | | | | 7 | | |
HP:0000843 | HP:0011770 | Tertiary hyperparathyroidism | 1 | CL E G H | | | | | | | | | | |
HP:0000843 | HP:0008200 | Primary hyperparathyroidism | 1 | AP2S1 CL E G H | 1175 | 565 | OMIM:600740 | Hypocalciuric hypercalcemia, familial, type III | . | | | 6 | | |
HP:0000843 | HP:0008200 | Primary hyperparathyroidism | 1 | ARMC5 CL E G H | 79798 | 25781 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 7 | | |
HP:0000843 | HP:0000867 | Secondary hyperparathyroidism | 1 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0000843 | HP:0008200 | Primary hyperparathyroidism | 1 | CASR CL E G H | 846 | 1514 | OMIM:239200 | Hyperparathyroidism, neonatal severe | . | | | 272 | | |
HP:0000843 | HP:0008200 | Primary hyperparathyroidism | 1 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99879 | Familial isolated hyperparathyroidism | HP:0040281 - Very frequent | | | 169 | | |
HP:0000843 | HP:0008200 | Primary hyperparathyroidism | 1 | CDC73 CL E G H | 79577 | 16783 | OMIM:145000 | Hyperparathyroidism 1 | . | | | 169 | | |
HP:0000843 | HP:0008200 | Primary hyperparathyroidism | 1 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | HP:0040280 - Obligate | | | 169 | | |
HP:0000843 | HP:0008200 | Primary hyperparathyroidism | 1 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | HP:0040280 - Obligate | | | 169 | | |
HP:0000843 | HP:0008200 | Primary hyperparathyroidism | 1 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | 2 | | |
HP:0000843 | HP:0008200 | Primary hyperparathyroidism | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | 102 | | |
HP:0000843 | HP:0008200 | Primary hyperparathyroidism | 1 | CDKN1B CL E G H | 1027 | 1785 | OMIM:610755 | Multiple endocrine neoplasia, type IV | | | | 102 | | |
HP:0000843 | HP:0008200 | Primary hyperparathyroidism | 1 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | 1 | | |
HP:0000843 | HP:0008200 | Primary hyperparathyroidism | 1 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | | | |
HP:0000843 | HP:0000867 | Secondary hyperparathyroidism | 1 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040281 - Very frequent | | | 41 | | |
HP:0000843 | HP:0000867 | Secondary hyperparathyroidism | 1 | CYP27B1 CL E G H | 1594 | 2606 | OMIM:264700 | Vitamin D hydroxylation-deficient rickets, type 1A | . | | | 41 | | |
HP:0000843 | HP:0000867 | Secondary hyperparathyroidism | 1 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040281 - Very frequent | | | 5 | | |
HP:0000843 | HP:0008200 | Primary hyperparathyroidism | 1 | GCM2 CL E G H | 9247 | 4198 | ORPHA:99879 | Familial isolated hyperparathyroidism | HP:0040281 - Very frequent | | | 51 | | |
HP:0000843 | HP:0008200 | Primary hyperparathyroidism | 1 | GCM2 CL E G H | 9247 | 4198 | OMIM:617343 | Hyperparathyroidism 4 | . | | | 51 | | |
HP:0000843 | HP:0008200 | Primary hyperparathyroidism | 1 | GNA11 CL E G H | 2767 | 4379 | OMIM:145981 | Hypocalciuric hypercalcemia, familial, type II | . | | | 16 | | |
HP:0000843 | HP:0008200 | Primary hyperparathyroidism | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 101 | | |
HP:0000843 | HP:0008200 | Primary hyperparathyroidism | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:99879 | Familial isolated hyperparathyroidism | HP:0040281 - Very frequent | | | 462 | | |
HP:0000843 | HP:0008200 | Primary hyperparathyroidism | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:97279 | Insulinoma | HP:0040282 - Frequent | | | 462 | | |
HP:0000843 | HP:0008200 | Primary hyperparathyroidism | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | 462 | | |
HP:0000843 | HP:0000867 | Secondary hyperparathyroidism | 1 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | . | | | 104 | | |
HP:0000843 | HP:0008200 | Primary hyperparathyroidism | 1 | YY1 CL E G H | 7528 | 12856 | ORPHA:97279 | Insulinoma | HP:0040282 - Frequent | | | 7 | | |